Literature DB >> 9338588

P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.

Y Watanabe, S Yano, Y Koga, S Yukizane, A Nishiyori, M Yoshino, H Kato, T Ogata, M Adachi.   

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Year:  1997        PMID： 9338588     DOI： 10.1002/(SICI)1098-1004(1997)10:4<326::AID-HUMU10>3.0.CO;2-1

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

Review 1.  The molecular genetics of Marfan syndrome and related microfibrillopathies.

Authors:  P N Robinson; M Godfrey
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

2.  The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family.

Authors:  Obaid M Albulym; Danqing Zhu; Stephen Reddel; Marina Kennerson; Garth Nicholson
Journal:  J Neurodegener Dis       Date:  2012-11-28
  2 in total

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